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Preview	Issue Date	Title	Author(s)
	1998	A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy.	Donnelly, A.; Haan, E.; Manson, J.; Mulley, J.
	1998	Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24	Phillips, H.; Scheffer, I.; Crossland, K.; Bhatia, K.; Fish, D.; Marsden, C.; Howell, S.; Stephenson, J.; Tolmie, J.; Plazzi, G.; Eeg-Olofsson, O.; Singh, R.; Lopes-Cendes, I.; Andermann, E.; Berkovic, S.; Mulley, J.
	2002	A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype	Cundy, T.; Hegde, M.; Naot, D.; Chong, B.; King, A.; Wallace, R.; Mulley, J.; Love, D.; Seidel, J.; Fawkner, M.; Banovic, T.; Callon, K.; Grey, A.; Reid, I.; Middleton-Hardie, C.; Cornish, J.
	2002	Sodium-channel defects in benign familial neonatal-infantile seizures	Heron, S.; Crossland, K.; Andermann, E.; Phillips, H.; Hall, A.; Bleasel, A.; Shevell, M.; Mercho, S.; Seni, M.; Guiot, M.; Mulley, J.; Berkovic, S.; Scheffer, I.
	2007	Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation	Tarpey, P.; Raymond, F.; Nguyen, L.; Rodriguez, J.; Hackett, A.; Vandeleur, L.; Smith, R.; Shoubridge, C.; Edkins, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Hills, K.; Jones, D.; Mironenko, T.; Perry, J.; et al.
	1995	Detection of circulating tumor cells in colorectal cancer by Immunobead-PCR is a sensitive prognostic marker for relapse of disease	Hardingham, J.; Kotasek, D.; Sage, R.; Eaton, M.; Pascoe, V.; Dobrovic, A.
	2017	NAD deficiency, congenital malformations, and niacin supplementation	Shi, H.; Enriquez, A.; Rapadas, M.; Martin, E.; Wang, R.; Moreau, J.; Lim, C.; Szot, J.; Ip, E.; Hughes, J.; Sugimoto, K.; Humphreys, D.; McInerney-Leo, A.; Leo, P.; Maghzal, G.; Halliday, J.; Smith, J.; Colley, A.; Mark, P.; Collins, F.; et al.
	2019	GJB2 and GJB6 mutations in hereditary recessive non-syndromic hearing impairment in Cameroon	Tingang Wonkam, E.; Chimusa, E.; Noubiap, J.J.; Adadey, S.M.; F Fokouo, J.V.; Wonkam, A.
	1999	Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda	Gedeon, A.; Colley, A.; Jamieson, R.; Thompson, E.; Rogers, J.; Sillence, D.; Tiller, G.; Mulley, J.; Gecz, J.
	2023	TP53 mutation variant allele frequency of ≥10% is associated with poor prognosis in therapy-related myeloid neoplasms	Shah, M.V.; Tran, E.N.H.; Shah, S.; Chhetri, R.; Baranwal, A.; Ladon, D.; Shultz, C.; Al-Kali, A.; Brown, A.L.; Chen, D.; Scott, H.S.; Greipp, P.; Thomas, D.; Alkhateeb, H.B.; Singhal, D.; Gangat, N.; Kumar, S.; Patnaik, M.M.; Hahn, C.N.; Kok, C.H.; et al.